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Rare genetic coding variants associated with human longevity and protection against age-related diseases.
Lin JR, Sin-Chan P, Napolioni V, Torres GG, Mitra J, Zhang Q, Jabalameli MR, Wang Z, Nguyen N, Gao T; Regeneron Genetics Center; Laudes M, Görg S, Franke A, Nebel A, Greicius MD, Atzmon G, Ye K, Gorbunova V, Ladiges WC, Shuldiner AR, Niedernhofer LJ, Robbins PD, Milman S, Suh Y, Vijg J, Barzilai N, Zhang ZD. Lin JR, et al. Among authors: shuldiner ar. Nat Aging. 2021 Sep;1(9):783-794. doi: 10.1038/s43587-021-00108-5. Epub 2021 Sep 13. Nat Aging. 2021. PMID: 37117627
SuperAger Initiative: unlocking the genetic potential of exceptional longevity.
Milman S, Barzilai N, Wilson KA, Van der Willik O, Lederman S, Perls T, Gao T, Leahy AM, Jain P, Montgomery A, Shuldiner AR. Milman S, et al. Among authors: shuldiner ar. Nat Aging. 2023 Jun;3(6):627-628. doi: 10.1038/s43587-023-00429-7. Nat Aging. 2023. PMID: 37202472 No abstract available.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: shuldiner ar. Nature. 2023 Mar;615(7950):E3. doi: 10.1038/s41586-023-05803-4. Nature. 2023. PMID: 36807635 Free PMC article. No abstract available.
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM; Alcohol Genome-wide Association (AlcGen) Consort… See abstract for full author list ➔ Chambers JC, et al. Nat Genet. 2011 Oct 16;43(11):1131-8. doi: 10.1038/ng.970. Nat Genet. 2011. PMID: 22001757 Free PMC article.
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: shuldiner ar. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0. Online ahead of print. Nature. 2024. PMID: 38768635
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C, Ioannides M, Polydorou C, Papagregoriou G, Malatras A, Michael G, Hadjiioannou I, Pieri S, Loizidou EM, Eftychiou C, Papasavvas E, Christophides T, Alkelai A, Kapoor M, Shuldiner AR, Avraamides P, Deltas C. Koutsofti C, et al. Among authors: shuldiner ar. Genes (Basel). 2024 Feb 28;15(3):319. doi: 10.3390/genes15030319. Genes (Basel). 2024. PMID: 38540378 Free PMC article.
Prevalence of Distal Symmetrical Polyneuropathy by Diabetes Prevention Program Treatment Group, Diabetes Status, Duration of Diabetes, and Cumulative Glycemic Exposure.
Lee CG, Ciarleglio A, Edelstein SL, Crandall JP, Dabelea D, Goldberg RB, Kahn SE, Knowler WC, Ma MT, White NH, Herman WH; Diabetes Prevention Program Research Group. Lee CG, et al. Diabetes Care. 2024 May 1;47(5):810-817. doi: 10.2337/dc23-2009. Diabetes Care. 2024. PMID: 38502874 Clinical Trial.
Missense variants in SORT1 are associated with LDL-C in an Amish population.
Mitok KA, Schueler KL, King SM, Orr J, Ryan KA, Keller MP, Krauss RM, Mitchell BD, Shuldiner AR, Attie AD. Mitok KA, et al. Among authors: shuldiner ar. J Lipid Res. 2023 Dec;64(12):100468. doi: 10.1016/j.jlr.2023.100468. Epub 2023 Oct 31. J Lipid Res. 2023. PMID: 37913995 Free PMC article.
545 results